The fate of cartilage oligomeric matrix protein is determined by the cell type in the case of a novel mutation in pseudoachondroplasia

Journal of Biological Chemistry

Volumn 272, Issue 49, 1997, Pages 30993-30997

  Maddox, B Kerry ^a,b   Keene, Douglas R ^a,b   Sakai, Lynn Y ^a,c   Charbonneau, Noé L ^a   Morris, Nicholas P ^a,c   Ridgway, Catherine C ^a   Boswell, Bruce A ^a   Sussman, Michael D ^a   Horton, William A ^a,b   Bächinger, Hans Peter ^a,c   Hecht, Jacqueline T ^d  

^a SHRINERS HOSPITAL FOR CHILDREN   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^d UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MATRIX PROTEIN; OLIGOMER;

ACHONDROPLASIA; ARTICLE; CASE REPORT; CHILD; DNA DETERMINATION; ENDOPLASMIC RETICULUM; EXTRACELLULAR MATRIX; GENE MUTATION; HUMAN; IMMUNOCYTOCHEMISTRY; IMMUNOFLUORESCENCE; MALE; MICROSOME; MISSENSE MUTATION; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; PROTEIN ANALYSIS;

EID: 0030699168     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.272.49.30993     Document Type: Article

References (33)

1. Briggs, M. D., Rasmussen, I. M., Weber, J. L., Yuen, J., Reinker, K., Garber, A. P., Rimoin, D. L., and Cohn, D. H. (1993) Genomics 18, 656-660
2. Hecht, J. T., Francomano, C. A., Briggs, M. D., Deere, M., Conner, B., Horton, W. A., Warman, M., Cohn, D. H., and Blanton, S. H. (1993) Genomics 18, 661-666
3. Newton, G., Weremowicz, S., Morton, C. C., Copeland, N. G., Gilbert, D. J., Jenkins, N. A., and Lawler, J. (1994) Genomics 24, 435-439
4. Oehlmann, R., Summerville, G. P., Yeh, G., Weaver, E. J., Jimenez, S. A., and Knowlton, R. G. (1994) Am. J. Hum. Genet. 54, 3-10
5. Briggs, M. D., Hoffman, S. M., King, L. M., Olsen, A. S., Mohrenweiser, H., Leroy, J. G., Mortier, G. R., Rimoin, D. L., Lachman, R. S., Gaines, E. S., Cekleniak, J. A., Knowlton, R. G., and Cohn, D. H. (1995) Nat. Genet. 10, 330-336
6. Hecht, J. T., Nelson, L. D., Crowder, E., Wang, Y., Elder, F. F., Harrison, W. R., Francomano, C. A., Prange, C. K., Lennon, G. G., Deere, M., and Lawler, J. (1995) Nat. Genet. 10, 325-329
7. Horton, W. A., and Hecht, J. T. (1993) in Connective Tissue and Its Heritable Disorders (McCusick, V., ed) pp. 641-675, Wiley-Liss, Inc., New York
8. Briggs, M. D., Choi, H. C., Warman, M. L., Loughlin, J. A., Wordsworth, P., Sykes, B. C., Irven, C., Smith, M., Wynnedavies, R., Lipson, M. H., Biesecker, L. G., Garber, A. P., Lachman, R., Olsen, B. R., Rimoin, D. L., and Cohn, D. H. (1994) Am. J. Hum. Genet. 55, 678-684
9. Warman, M. L., McCarthy, M. T., Perala, M., Vuorio, E., Knoll, J. H., McDaniels, C. N., Mayne, R., Beier, D. R., and Olsen, B. R. (1994) Genomics 23, 158-162
10. Muragaki, Y., Mariman, E. C., van Beersum, S. E., Perala, M., van Mourik, J. B., Warman, M. L., Olsen, B. R., and Hamel, B. C. (1996) Nat. Genet. 12, 103-105
11. DiCesare, P. E., Morgelin, M., Mann, K., and Paulsson, M. (1994) Eur. J. Biochem. 223, 927-937
12. Hedbom, E., Antonsson, P., Hjerpe, A., Aeschlimann, D., Paulsson, M., Rosa-Pimentel, E., Sommarin, Y., Wendel, M., Oldberg, A., and Heinegard, D. (1992) J. Biol. Chem. 267, 6132-6136
13. DiCesare, P., Hauser, N., Lehman, D., Pasumarti, S., and Paulsson, M. (1994) FEBS Lett. 354, 237-240
14. Morgelin, M., Heinegard, D., Engel, J., and Paulsson, M. (1992) J. Biol. Chem. 267, 6137-6141
15. Malashkevich, V. N., Kammerer, R. A., Efimov, V. P., Schulthess, T., and Engel, J. (1996) Science 274, 761-765
16. Cohn, D. H., Briggs, M. D., King, L. M., Rimoin, D. L., Wilcox, W. R., Lachman, R. S., and Knowlton, R. G. (1996) Ann. N. Y. Acad. Sci. 785, 188-194
17. Bornstein, P., and Sage, E. H. (1994) Methods Enzymol. 245, 62-85
18. Lawler, J., and Simons, E. R. (1983) J. Biol. Chem. 258, 12098-12101
19. Misenheimer, T. M., and Mosher, D. F. (1995) J. Biol. Chem. 270, 1729-1733
20. Cooper, R. R., Ponseti, I. V., and Maynard, J. A. (1973) J. Bone Joint Surg. 55, 475-484
21. Maynard, J. A., Cooper, R. R., and Ponseti, I. V. (1972)Lab. Invest. 26, 40-44
22. Stanescu, R., Stanescu, V., Muriel, M. P., and Maroteaux, P. (1993) Am. J. Med. Genet. 45, 501-507
23. Prabakaran, D., Kim, P. S., Dixit, V. M., and Arvan, P. (1996) Eur. J. Cell Biol. 70, 134-141
24. Keene, D. R., Oxford, J. T., and Morris, N. P. (1995) J. Histochem. Cytochem. 43, 967-979
25. Sakai, L. Y., and Keene, D. R. (1994) Methods Enzymol. 245, 29-52
26. Beck, K., Boswell, B. A., Ridgway, C. C., and Bachinger, H. P. (1996) J. Biol. Chem. 271, 21566-21573
27. Kuznetsov, G., Chen, L. B., and Nigam, S. K. (1997) J. Biol. Chem. 272, 3057-3063
28. Stanescu, V., Stanescu, R., and Maroteaux, P. (1984) J. Bone Joint Surg. 66, 817-836
29. Stanescu, V., Maroteaux, P., and Stanescu, R. (1982) Eur. J. Ped. 138, 221-225
30. Vertel, B. M., Velasco, A., LaFrance, S., Walters, L., and Kaczman-Daniel, K. (1989) J. Cell Biol. 109, 1827-1836
31. Fässler, R., Schnegelsberg, P. N. J., Dausman, J., Shinya, T., Muragaki, Y., McCarthy, M. T., Olsen, B. R., and Jaenisch, R. (1994) Proc. Natl. Acad. Sci. U. S. A. 91, 5070-5074
32. Nakata, K., Ono, K., Miyazaki, J., Olsen, B. R., Muragaki, Y., Adachi, E., Yamamura, K., and Kimura, T. (1993) Proc. Natl. Acad. Sci. U. S. A. 90, 2870-2874
33. Maddox, B. K., Garofalo, S., Keene, D. R., Smith, C., and Horton, W. A. (1997) Matrix Biol. 16, 93-103